Canonical Allele Identifier: CA357497444
Gene: ADH7 HGNC NCBI

Linked Data

gnomAD v4: 4-99420579-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420579T>A , CM000666.2:g.99420579T>A GRCh38
NC_000004.11:g.100341736T>A , CM000666.1:g.100341736T>A GRCh37
NC_000004.10:g.100560759T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.779A>T MANE Select ENSP00000414254.2:p.Asn260Ile
ENST00000209665.8:c.815A>T ENSP00000209665.4:p.Asn272Ile
ENST00000437033.6:c.779A>T ENSP00000414254.2:p.Asn260Ile
ENST00000476959.5:c.839A>T ENSP00000420269.1:p.Asn280Ile
ENST00000482593.5:c.608A>T ENSP00000420613.1:p.Asn203Ile
NM_000673.4:c.815A>T NP_000664.2:p.Asn272Ile
NM_001166504.1:c.839A>T NP_001159976.1:p.Asn280Ile
NM_000673.7:c.779A>T MANE Select NP_000664.3:p.Asn260Ile
NM_001166504.2:c.839A>T NP_001159976.1:p.Asn280Ile